Mo-P6:446 Adenosine monophosphate kinase alpha-2 subunit gene: Single nucleotide polymorphisms associated with total- and low density lipoprotein cholesterol

2006 ◽  
Vol 7 (3) ◽  
pp. 144
Author(s):  
S.D. O'Dell ◽  
N.J. Spencer-Jones ◽  
H. Snieder ◽  
D. Ge ◽  
N.D. Carter ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Low Density Lipoprotein ◽  
Density Lipoprotein ◽  
Adenosine Monophosphate ◽  
Lipoprotein Cholesterol ◽  
Low Density ◽  
Nucleotide Polymorphisms ◽  
Subunit Gene ◽  
Low Density Lipoprotein Cholesterol ◽  
Single Nucleotide

scholarly journals The combination of single nucleotide polymorphisms rs6720173 (ABCG5), rs3808607 (CYP7A1), and rs760241 (DHCR7) is associated with differing serum cholesterol responses to dairy consumption

2018 ◽  
Vol 43 (10) ◽  
pp. 1090-1093 ◽  
Author(s):  
Mohammad M.H. Abdullah ◽  
Peter K. Eck ◽  
Patrick Couture ◽  
Benoît Lamarche ◽  
Peter J.H. Jones
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Serum Cholesterol ◽  
Genetic Architecture ◽  
Low Density Lipoprotein ◽  
Density Lipoprotein ◽  
Nucleotide Polymorphisms ◽  
Low Density Lipoprotein Cholesterol ◽  
Dietary Interventions ◽  
Single Nucleotide ◽  
Dairy Consumption

Existing evidence on the influence of genetic architecture on serum cholesterol responsiveness to dietary interventions focuses on individual single nucleotide polymorphisms and single nutrients. We associated the combination of ABCG5 rs6720173-C, CYP7A1 rs3808607-TT, and DHCR7 rs760241-GG genotypes with lower low-density lipoprotein cholesterol concentrations relative to the combination of rs6720173-GG, rs3808607-G, and rs760241-A genotypes (–0.37 ± 0.12 (n = 9) vs. +0.38 ± 0.14 mmol/L (n = 7), p = 0.0016) following a blended dairy (3 servings/day for 4 weeks) intervention.

scholarly journals Variants in STAT5B Associate with Serum TC and LDL-C Levels

2011 ◽  
Vol 96 (9) ◽  
pp. E1496-E1501 ◽  
Author(s):  
Jan-Wilhelm Kornfeld ◽  
Aaron Isaacs ◽  
Veronique Vitart ◽  
J. Andrew Pospisilik ◽  
Thomas Meitinger ◽  
...  
Keyword(s):  
Genetic Variants ◽  
Serum Lipid ◽  
Low Density Lipoprotein ◽  
Density Lipoprotein ◽  
Low Density ◽  
Nucleotide Polymorphisms ◽  
Hepatic Cholesterol ◽  
Lipid Levels ◽  
Low Density Lipoprotein Cholesterol ◽  
Single Nucleotide

Abstract Context: Known genetic variants influencing serum lipid levels do not adequately account for the observed population variability of these phenotypes. The GH/signal transducers and activators of transcription (STAT) signaling pathway is an evolutionary conserved system that exerts strong effects on metabolism, including that of lipids. Research Design and Methods: We analyzed the association of 11 single-nucleotide polymorphisms (SNP) spanning the STAT5B/STAT5A/STAT3 locus with serum lipid levels in six European populations (n = 5162 nondiabetic individuals). Results: After adjustment for age, sex, alcohol use, smoking, and body mass index, we identified STAT5B variants (rs8082391 and rs8064638) in novel association with total cholesterol (TC; P = 0.001 and P = 0.002) and low-density lipoprotein cholesterol (P = 0.002 and P = 0.004) levels. The minor alleles of these single-nucleotide polymorphisms were significantly enriched in hyperlipidemic individuals across the six discovery populations (P = 0.004 and P = 0.006). In transgenic mice deficient for hepatic STAT5A and STAT5B, reduced serum TC levels coincided with reduced hepatic cholesterol biosynthesis as demonstrated using gene expression profiling and pathway enrichment analysis. Conclusions: Genetic variants in STAT5B are associated with TC and low-density lipoprotein cholesterol levels among six populations. Mechanistically, STAT5B transcriptionally regulates hepatic cholesterol homeostasis.

scholarly journals The association between low-density lipoprotein cholesterol predicted by HMGCR genetic variants and breast cancer risk may be mediated by body mass index

2018 ◽  
Author(s):  
Siddhartha P. Kar ◽  
Hermann Brenner ◽  
Graham G. Giles ◽  
Dezheng Huo ◽  
Roger L. Milne ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Low Density Lipoprotein ◽  
Density Lipoprotein ◽  
Lipoprotein Cholesterol ◽  
Low Density ◽  
Nucleotide Polymorphisms ◽  
Low Density Lipoprotein Cholesterol ◽  
Genome Wide ◽  
A Genome ◽  
Mr Study

Orho-Melander et al. recently reported that lower low-density lipoprotein cholesterol (LDLC) as predicted by the T-allele of the variant rs12916 in HMGCR is associated with a decreased risk of developing breast cancer [odds ratio (OR) = 0.89; 95% confidence interval (CI): 0.82–0.96].1 This analysis was embedded in a wider Mendelian randomization (MR) study performed using genotype data from a prospective cohort of 26,589 individuals that included 16,022 women and 1176 incident breast cancer cases. HMGCR encodes 3-hydroxy-3-methylglutaryl-coenzyme A reductase, the enzyme inhibited by statins. The T-allele of rs12916 is associated with reduced HMGCR expression and therefore, in principle, its effects should be analogous to the effects of lifelong statin administration starting at birth.2 The MR study of Orho-Melander et al. also found that a genome-wide LDLC score based on 32 independent LDLC-associated single nucleotide polymorphisms (SNPs) was not associated with breast cancer. In light of this finding, they suggest that the protective effect of the rs12916 T-allele on breast cancer may either be specific to LDLC lowering via genetic inhibition of HMGCR or be the result of a distinct mechanism that is regulated by rs12916 and HMGCR.

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